Sepsis is a major concern in neonatology, but there are no reliable biomarkers for its early diagnosis. The aim of the study was to compare the metabolic profiles of plasma and urine samples collected at birth from preterm neonates with and without earlyonset sepsis (EOS) to identify metabolic perturbations that might orient the search for new early biomarkers. All preterm newborns admitted to the neonatal intensive care unit were eligible for this proof-of-concept, prospective case-control study. Infants were enrolled as “cases” if they developed EOS, and as “controls”if they did not. Plasma samples collected at birth and urine samples collected within 24 h of birth underwent untargeted and targeted metabolomic analysis using mass spectrometry coupled with ultra-performance liquid chromatography. Univariate and multivariate statistical analyses were applied. Of 123 eligible newborns, 15 developed EOS. These 15 newborns matched controls for gestational age and weight. Metabolomic analysis revealed evident clustering of the cases versus controls, with the glutathione and tryptophan metabolic pathways markedly disrupted in the former. In conclusion, neonates with EOS had a metabolic profile at birth that clearly distinguished them from those without sepsis, and metabolites of glutathione and tryptophan pathways are promising as new biomarkers of neonatal sepsis.
Neonatal diabetes mellitus (NDM) is a rare condition characterized by onset of persistent hyperglycaemia with-in the first six months of life. Heterozygous mutations in KCNJ11 gene account for about half of the cases of per-manent form of NDM and are associated with a wide range of neurocognitive disabilities. In suspected NDM, immediate molecular genetic testing is recommended because most of the cases due to mutations in KCNJ11 gene are responsive to oral sulfonylurea (SU) therapy with excellent glycaemic control at long term follow up. The present report describes a case of early detection of permanent NDM, due to KCNJ11 gene mutation, which has been successfully treated with SU oral therapy.
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